Skip to main content
Human Gene COX4I2 (ENST00000376075.4) from GENCODE V50
  Description: cytochrome c oxidase subunit 4I2 (from RefSeq NM_032609.3)
Gencode Transcript: ENST00000376075.4
Gencode Gene: ENSG00000131055.7
Transcript (Including UTRs)
   Position: hg38 chr20:31,637,912-31,645,006 Size: 7,095 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr20:31,639,018-31,644,904 Size: 5,887 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2026-07-12 09:30:09

-  Comments and Description Text from UniProtKB
  ID: COX42_HUMAN
DESCRIPTION: RecName: Full=Cytochrome c oxidase subunit 4 isoform 2, mitochondrial; AltName: Full=Cytochrome c oxidase subunit IV isoform 2; Short=COX IV-2; Flags: Precursor;
FUNCTION: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
SUBCELLULAR LOCATION: Mitochondrion inner membrane.
TISSUE SPECIFICITY: Highly expressed in lung.
DISEASE: Defects in COX4I2 are the cause of exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]. Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth.
SIMILARITY: Belongs to the cytochrome c oxidase IV family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: COX4I2
Diseases sorted by gene-association score: exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis* (1281), exocrine pancreatic insufficiency (43), calvarial hyperostosis (39), hyperostosis (18)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.58 RPKM in Lung
Total median expression: 191.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
 
Expression ratio colors:

GTEx Gene Expression

       
      
       
       
      
Ratios
       
      
       
       
      
Absolute
       
      
       
Ratios
       
      
       
Absolute

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
Ratios
      
      
      
     
    
     
Absolute
      
       
      
      
     
    
Ratios
      
       
      
      
     
    
Absolute
   
     
     
Ratios
   
     
     
Absolute

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.6051-0.365 Picture PostScript Text
3' UTR -23.10102-0.226 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013288 - Cyt_c_oxidase_su4
IPR004203 - Cyt_c_oxidase_su4_fam

Pfam Domains:
PF02936 - Cytochrome c oxidase subunit IV

ModBase Predicted Comparative 3D Structure on Q96KJ9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004129 cytochrome-c oxidase activity

Biological Process:
GO:0006091 generation of precursor metabolites and energy
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:0045333 cellular respiration
GO:0055114 oxidation-reduction process
GO:0071456 cellular response to hypoxia
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005751 mitochondrial respiratory chain complex IV
GO:0016020 membrane
GO:0031966 mitochondrial membrane


-  Descriptions from all associated GenBank mRNAs
  AF257180 - Homo sapiens cytochrome c oxidase subunit IV isoform 2 precursor, mRNA, complete cds.
BC057779 - Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung), mRNA (cDNA clone MGC:71584 IMAGE:30337282), complete cds.
JD271807 - Sequence 252831 from Patent EP1572962.
KJ895022 - Synthetic construct Homo sapiens clone ccsbBroadEn_04416 COX4I2 gene, encodes complete protein.
KR712040 - Synthetic construct Homo sapiens clone CCSBHm_00034994 COX4I2 (COX4I2) mRNA, encodes complete protein.
HE647859 - Homo sapiens mRNA for cytochrome c oxidase subunit IV isoform 2 (COX4I2 gene).
JD253076 - Sequence 234100 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa04260 - Cardiac muscle contraction
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

-  Other Names for This Gene
  Alternate Gene Symbols: COX42_HUMAN, COX4I2 , COX4L2 , ENST00000376075.1, ENST00000376075.2, ENST00000376075.3, NM_032609, Q6GTF4, Q96KJ9, Q9H0Z4, uc002wwj.1, uc002wwj.2, uc002wwj.3
UCSC ID: ENST00000376075.4
RefSeq Accession: NM_032609.3
Protein: Q96KJ9 (aka COX42_HUMAN or CX42_HUMAN)
CCDS: CCDS13187.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.